Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Journal of Inherited Metabolic Disease

• Publication date

  2000-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1023/A:1026756501669PMID 11196105
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material.

  2013cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid.

  1999cited by this paper
• Genotyping of a case of tyrosinaemia type I with normal level of succinylacetone in amniotic fluid

  1999influential reference
• Cyclin B‐dependent kinase and caspase‐1 activation precedes mitochondrial dysfunction in fumarylacetoacetate‐induced apoptosis

  1999cited by this paper
• Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.

  1998influential reference
• Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)

  1998cited by this paper
• The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion.

  1997cited by this paper
• Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I

  1996cited by this paper
• Hereditary tyrosinemia type I: A new clinical classification with difference in prognosis on dietary treatment

  1994cited by this paper
• Self-induced correction of the genetic defect in tyrosinemia type I.

  1994cited by this paper
• Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.

  1993cited by this paper
• Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase.

  1992cited by this paper
• Principles and Practice of Medical Genetics

  1992cited by this paper
• Renal failure in adult patients with hereditary tyrosinaemia type I

  1991cited by this paper
• Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

  1990cited by this paper
• Liver transplantation for hereditary tyrosinemia: the Quebec experience.

  1990cited by this paper
• Liver transplantation in a 23-year-old tyrosinaemia patient: Effects on the renal tubular dysfunction

  1986influential reference
• Determination of urinary succinylacetone by capillary gas chromatography.

  1984cited by this paper
• Deficient Fumarylacetoacetate Fumarylhydrolase Activity in Lymphocytes and Fibroblasts from Patients with Hereditary Tyrosinemia

  1983cited by this paper
• Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone.

  1983cited by this paper
• Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia.

  1982cited by this paper
• Rapid and simplified extraction procedure for gas chromatographic--mass spectrometric profiling of urinary organic acids.

  1978cited by this paper
• On the enzymic defects in hereditary tyrosinemia.

  1977influential reference
• CHAPTER 10 – PHENOLIC ACIDS

  1976cited by this paper
• The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

  1976cited by this paper
• Quantitative metabolic profiling of urinary organic acids by gas chromatography-mass spectrometry: comparison of isolation methods.

  1975cited by this paper
• [Experimental studies in a case of tyrosinosis. New pathogenic hypothesis].

  1969cited by this paper
• TYROSINEMIA.

  1965cited by this paper
• Amino acid metabolism.

  1962cited by this paper
• Studies on urinary excretion of 5-aminolaevulic acid and other haem precursors in lead workers and lead-intoxicated rabbits.

  1960cited by this paper
• Kinetics of the Van Den Bergh Reaction

  1960cited by this paper
• Studies on the mechanism of the Fanconi syndrome.

  1947cited by this paper

• Smad2/3/4 complex could undergo liquid liquid phase separation and induce apoptosis through TAT in hepatocellular carcinoma

  2024cites this paper
• Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1

  2023cites this paper
• Proteomic analysis of fatty liver induced by starvation of medaka fish larvae

  2023cites this paper
• A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

  2023cites this paper
• Gene Expression Analysis Reveals Prognostic Biomarkers of the Tyrosine Metabolism Reprogramming Pathway for Prostate Cancer

  2022cites this paper
• Identification and validation of a tyrosine metabolism-related prognostic prediction model and characterization of the tumor microenvironment infiltration in hepatocellular carcinoma

  2022cites this paper
• Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways

  2022cites this paper
• Unveiling prognostics biomarkers of tyrosine metabolism reprogramming in liver cancer by cross-platform gene expression analyses

  2020cites this paper
• Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

  2017cites this paper
• Hereditary Tyrosinemia

  2017cites this paper
• pathogenic strains of helicobacter pyloriin patients with hepatocellular carcinoma

  2017cites this paper
• The outcome of seven patients with hereditary tyrosinemia type 1

  2016cites this paper
• Etiology and Pathogenesis of Hepatocellular Carcinoma: Hepatocellular Carcinoma Associated with Inborn Errors of Metabolism and Hepatobiliary Malformations

  2016cites this paper
• Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

  2015cites this paper
• Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I

  2014cites this paper
• Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.

  2014cites this paper
• Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.

  2013cites this paper
• Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.

  2012cites this paper
• Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

  2012cites this paper
• Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene

  2012cites this paper
• Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long‐term outcome

  2011cites this paper
• Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.

  2011cites this paper
• Chapter 40 – Hepatorenal Tyrosinemia

  2009cites this paper
• Two‐dimensional differential gel electrophoresis/analysis of diethylnitrosamine induced rat hepatocellular carcinoma

  2008influential citation
• “Silent” Tyrosinemia Presenting as Hepatocellular Carcinoma in a 10-year-old Girl

  2007cites this paper
• Kidneys of Mice With Hereditary Tyrosinemia Type I Are Extremely Sensitive to Cytotoxicity

  2006cites this paper
• Key Issues in the Modes of Action and Effects of Trichloroethylene Metabolites for Liver and Kidney Tumorigenesis

  2006cites this paper
• 59 – Postoperative Care of Pediatric Liver Transplant Recipients

  2005cites this paper
• No evidence of maternal cell colonization in reverted liver nodules of tyrosinemia type I patients.

  2004cites this paper
• Splicing mutations, mainly IVS6‐1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

  2002influential citation
• A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

  2001cites this paper
• Structural and Functional Analysis of Missense Mutations in Fumarylacetoacetate Hydrolase, the Gene Deficient in Hereditary Tyrosinemia Type 1*

  2001cites this paper